Oliver McFarlane syndrome and choroidal neovascularisation: a case report

ABSTRACT Background Oliver McFarlane syndrome (OMS) is a rare autosomal recessive disorder characterised by pigmentary chorioretinal atrophy with no previous reports of choroidal neovascularisation (CNV). Material and Methods We describe the history, findings of clinical examination, retinal imaging and electrodiagnostic studies, and the treatment of a patient with CNV secondary to OMS. Case Description CNV secondary to OMS was diagnosed in a ten-year-old white female who presented with reduced visual acuity and a macular haemorrhage in her right eye. CNV was confirmed on optical coherence tomography. She was initially treated with a single injection of intravitreal bevacizumab and 2 years later with an injection of intravitreal ranibizumab for a recurrence. Although macular scarring secondary to the CNV was observed, her vision has stabilised and she continues to be closely monitored. Conclusion We report the first case of CNV secondary to OMS and its successful treatment with intravitreal anti-vascular endothelial growth factor injections.

[1]  A. Lotery,et al.  Evaluation of Pro-re-Nata (PRN) and Treat and Extend Bevacizumab treatment protocols in Sorsby Fundus Dystrophy , 2018, European journal of ophthalmology.

[2]  N. Diederich,et al.  A new PNPLA6 mutation presenting as Oliver McFarlane syndrome , 2018, Journal of the Neurological Sciences.

[3]  O. Mahroo,et al.  FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY , 2017, Retina.

[4]  Carlos A. Moreira-Neto,et al.  Ten-Year Follow-Up after Bilateral Submacular Neovascular Membrane Removal in a Case of Autosomal Recessive Bestrophinopathy , 2017, Case Reports in Ophthalmology.

[5]  M. Michaelides,et al.  OCT angiography in the management of choroidal neovascular membrane secondary to Sorsby fundus dystrophy , 2016, BMJ Case Reports.

[6]  F. Bandello,et al.  Ranibizumab for subfoveal choroidal neovascularisation associated with Stargardt disease , 2015, British Journal of Ophthalmology.

[7]  X. Sheng,et al.  Oliver-McFarlane Syndrome in a Chinese Boy: Retinitis Pigmentosa, Trichomegaly, Hair Anomalies and Mental Retardation , 2015, Ophthalmic genetics.

[8]  M. Dattani,et al.  Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes , 2014, Journal of Medical Genetics.

[9]  J. Pedroso,et al.  Neuroimaging Features in Congenital Trichomegaly: The Oliver‐McFarlane Syndrome , 2014, Journal of neuroimaging : official journal of the American Society of Neuroimaging.

[10]  C. Wadelius,et al.  Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven‐year follow‐up of photodynamic treatment of a young boy with choroidal neovascularization , 2014, Acta ophthalmologica.

[11]  J. Sahni,et al.  Value of anti-VEGF treatment in choroidal neovascularization associated with autosomal recessive bestrophinopathy. , 2013, Digital Journal of Ophthalmology.

[12]  J. Chhablani,et al.  Intravitreal Bevacizumab for Choroidal Neovascularization Secondary to Best Vitelliform Macular Dystrophy in a 6-Year-Old Child , 2012, European journal of ophthalmology.

[13]  S. Demirel,et al.  Intravitreal Ranibizumab for the Treatment of Choroidal Neovascularization in Best’s Vitelliform Macular Dystrophy , 2012 .

[14]  K. Nachiappan,et al.  Ranibizumab for choroidal neovascular membrane in a rare case of Bietti's crystalline dystrophy: A case report , 2012, Indian journal of ophthalmology.

[15]  F. Bandello,et al.  Juxtafoveal choroidal neovascularization associated with retinitis pigmentosa treated with intravitreal bevacizumab. , 2012, Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics.

[16]  A. Luff,et al.  Successful treatment of choroidal neovascularization secondary to sorsby fundus dystrophy with intravitreal bevacizumab. , 2010, Retinal cases & brief reports.

[17]  M. Çakır,et al.  Intravitreal bevacizumab and triamcinolone treatment for choroidal neovascularization in Best disease. , 2009, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

[18]  R. Forsyth,et al.  Oliver-McFarlane syndrome (chorioretinopathy-pituitary dysfunction) with prominent early pituitary dysfunction: differentiation from choroideremia-hypopituitarism. , 2008, Clinical dysmorphology.

[19]  U. Schmidt-Erfurth,et al.  Choroidal neovascularization secondary to Sorsby fundus dystrophy treated with systemic bevacizumab (Avastin). , 2007, Acta ophthalmologica Scandinavica.

[20]  R. Gershoni-baruch,et al.  Autosomal recessive Oliver–McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy‐pituitary dysfunction) , 2005, American journal of medical genetics. Part A.

[21]  E. Souied,et al.  Photodynamic therapy for choroidal neovascularization on late-onset fundus flavimaculatus. , 2005, American journal of ophthalmology.

[22]  A. Deutman,et al.  Hereditary retinal dystrophies and choroidal neovascularization , 2000, Graefe's Archive for Clinical and Experimental Ophthalmology.

[23]  Jacob Cheng,et al.  Photodynamic therapy for choroidal neovascularization in stargardt disease and retinitis pigmentosa. , 2009, Retinal cases & brief reports.

[24]  M. García-Pous,et al.  Ranibizumab for choroidal neovascularization in fundus flavimaculatus. , 2008, Retinal cases & brief reports.

[25]  Congenital trichomegaly ( Oliver-McFarlane syndrome ) : a case report with 9 years ’ follow up , 2002 .